| 17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome. | |
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MedLine Citation:
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PMID: 21397059 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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We report the case of a 26-month-old boy with mental retardation, facial dysmorphism, childhood feeding difficulties, short stature, bilateral cryptorchidism, micropenis, and heart defect. Endocrinal evaluation revealed complete growth hormone deficiency (GHD) and gonadotropic deficiency, and pituitary magnetic resonance imaging showed partial pituitary stalk interruption syndrome (PSIS). A de novo 493 kb microdeletion on chromosome 17q21.31 was identified using array comparative genomic hybridization (array-CGH) analysis. This is the first report of PSIS in thephenotypical spectrum of 17q21.31 microdeletion syndrome, although other midline abnormalities have previously been described. Our report suggests that GHD should be investigated in patients with 17q21.31 microdeletion syndrome and short stature, defined by a body height below - 2 standard deviation scores (SDS) for age and sex. This finding also opens new avenues of research on the etiopathogenesis of PSIS, for which thegenetic mechanisms remain unknown. |
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Authors:
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Salima El Chehadeh-Djebbar; Patrick Callier; Alice Masurel-Paulet; Candace Bensignor; Nathalie Méjean; Muriel Payet; Clémence Ragon; Christine Durand; Nathalie Marle; Anne-Laure Mosca-Boidron; Frédéric Huet; Francine Mugneret; Laurence Faivre; Christel Thauvin-Robinet |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-3-9 |
Journal Detail:
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Title: European journal of medical genetics Volume: - ISSN: 1878-0849 ISO Abbreviation: - Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-3-14 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011. Published by Elsevier Masson SAS. |
Affiliation:
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Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, CHU de Dijon, France. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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